rs397515374
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AT;TA) | 6.3 | Bannayan-Riley-Ruvalcaba syndrome |
(TA;TA) | 0 | common in clinvar |
Make rs397515374(AT;AT) |
Reference | GRCh38 38.1/141 |
Chromosome | 10 |
Position | 87952159 |
Gene | PTEN |
is a | snp |
is | mentioned by |
dbSNP | rs397515374 |
dbSNP (classic) | rs397515374 |
ClinGen | rs397515374 |
ebi | rs397515374 |
HLI | rs397515374 |
Exac | rs397515374 |
Gnomad | rs397515374 |
Varsome | rs397515374 |
LitVar | rs397515374 |
Map | rs397515374 |
PheGenI | rs397515374 |
Biobank | rs397515374 |
1000 genomes | rs397515374 |
hgdp | rs397515374 |
ensembl | rs397515374 |
geneview | rs397515374 |
scholar | rs397515374 |
rs397515374 | |
pharmgkb | rs397515374 |
gwascentral | rs397515374 |
openSNP | rs397515374 |
23andMe | rs397515374 |
SNPshot | rs397515374 |
SNPdbe | rs397515374 |
MSV3d | rs397515374 |
GWAS Ctlg | rs397515374 |
Max Magnitude | 6.3 |
ClinVar | |
---|---|
Risk | rs397515374(AT;AT) |
Alt | rs397515374(AT;AT) |
Reference | Rs397515374(TA;TA) |
Significance | Pathogenic |
Disease | Bannayan-Riley-Ruvalcaba syndrome |
Variation | info |
Gene | PTEN |
CLNDBN | Bannayan-Riley-Ruvalcaba syndrome |
Reversed | 0 |
HGVS | NC_000010.10:g.89711916_89711917delTAinsAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008270.3, |